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J Cutan Med Surg 2021 May 4:12034754211016295. Epub 2021 May 4.

74560 Department of Dermatology, Hangzhou Third People's Hospital, Affiliated Hangzhou Dermatology Hospital, Zhejiang University School of Medicine - Dermatology, Hangzhou, China.

Genet Med 2021 May 3. Epub 2021 May 3.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the "warning signals" to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2-7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Read More

Cell Chem Biol 2021 Mar 13. Epub 2021 Mar 13.

Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zurich, 8093 Zurich, Switzerland. Electronic address:

Erythropoietic protoporphyria (EPP) is a rare disease in which patients experience severe light sensitivity. It is caused by a deficiency of ferrochelatase (FECH), the last enzyme in heme biosynthesis (HBS). The lack of FECH causes accumulation of its photoreactive substrate protoporphyrin IX (PPIX) in patients' erythrocytes. Read More

Photochem Photobiol Sci 2021 Feb 17;20(2):315-320. Epub 2021 Feb 17.

Dermatology Department, University of Brescia, ASST Spedali Civili Di Brescia, P.le Spedali Civili 1, 25123, Brescia, Italy.

Background: Afamelanotide (AFA) is a synthetic analogue of α-melanocyte-stimulating hormone that is approved for the treatment of patients affected by erythropoietic protoporphyria (EPP). AFA induces a "sun free" tanning and changes of acquired melanocytic nevi (AMN) that are generically described as "darkening".

Objectives: To assess clinical and dermoscopic AMN changes during AFA treatment. Read More

J Drugs Dermatol 2021 03;20(3):290-294

Afamelanotide (SCENESSE®) is a synthetic analogue of α-melanocyte-stimulating hormone that is FDA-approved to increase pain-free sunlight exposure in adult patients with erythropoietic protoporphyria. Its dual photoprotective and anti-inflammatory effects also make it a promising therapy for other photosensitive dermatologic diseases that are resistant to treatment. The PubMed/MEDLINE and ClinicalTrials. Read More

Haematologica 2021 Feb 18. Epub 2021 Feb 18.

Universitat Internacional de Catalunya (UIC), Department of Basic Sciences, Iron metabolism: Regulation and Diseases. Sant Cugat del Vallès, Barcelona; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat.

Not available. Read More

Photodermatol Photoimmunol Photomed 2021 Feb 8. Epub 2021 Feb 8.

Photodermatosis Service, Division of Dermatology, Rabin Medical Center, Petah Tikva, Israel.

Background: Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood). Read More

Expert Rev Clin Pharmacol 2021 Feb;14(2):151-160

Porphyria Centre Rotterdam, Centre for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus University Medical Centre Rotterdam, The Netherlands.

: In erythropoietic protoporphyria (EPP), an inherited disorder of heme biosynthesis, accumulation of protoporphyrin IX results in acute phototoxicity. EPP patients experience severe burning pain after light exposure, which results in a markedly reduced quality of life. Afamelanotide is the first effective approved medical treatment for EPP, acting on melanocortin-1 receptors. Read More

Histopathology 2021 Jan 21. Epub 2021 Jan 21.

Department of Pathology, Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.

Pediatr Transplant 2021 Jan 6:e13966. Epub 2021 Jan 6.

Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, TN, USA.

Background: EPP is a rare disorder of heme biosynthesis in which patients present with disabling photosensitivity. A subset of patients develop severe liver disease with progressive liver failure necessitating an OLT. A HCT can potentially cure EPP by replacing the native bone marrow, which is the primary site of heme synthesis. Read More

Surg Case Rep 2021 Jan 5;7(1). Epub 2021 Jan 5.

Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Background: Erythropoietic protoporphyria (EPP) is a rare disorder of heme synthesis. Patients with EPP mainly show symptoms of photosensitivity, but approximately 20% of EPPs are associated with the liver-related complications. We report a case of breast cancer in a 48-year-old female patient with EPP in whom meticulous perioperative management was required in order to avoid complications resulting from this disease. Read More

Photodermatol Photoimmunol Photomed 2020 Dec 11. Epub 2020 Dec 11.

Division of Dermatology, Photodermatosis Service, Rabin Medical Center, Petah Tikva, Israel.

Background: There are three major types of genetic cutaneous porphyrias (GCP): erythropoietic protoporphyria (EPP), variegate porphyria (VP), and hereditary coproporphyria (HCP). Scarce data are available regarding their impact on patients' quality of life in the Mediterranean region.

Purpose: To describe the cutaneous features of GCP in Israel. Read More

Hematology Am Soc Hematol Educ Program 2020 12;2020(1):400-410

University of Washington, Seattle, Washington.

The porphyrias are a family of metabolic disorders caused by defects in the activity of one of the enzymes in the heme biosynthetic pathway. Acute intermittent porphyria (AIP), caused by autosomal dominant mutations in the gene encoding hydroxymethylbilane synthase, can lead to hepatocyte overaccumulation and systemic distribution of the proximal porphyrin precursors, 5-aminolevulinic acid (ALA) and porphobilinogen (PBG). ALA and PBG are toxic to neurons and extrahepatic tissue and cause the neurovisceral clinical manifestations of AIP. Read More

Hautarzt 2021 May;72(5):459-466

Klinik für Hautkrankheiten, Universitätsklinikum Jena, Erfurter Str. 35, 07743, Jena, Deutschland.

In 1801, ultraviolet (UV) radiation was first described in Jena (Germany). Over the course of the last 200 years, the city has developed into a university and industry center for glass production, optics and spectroscopy. How this development influenced dermatotherapy in Jena is the subject of this article. Read More

J Am Vet Med Assoc 2020 Dec;257(11):1148-1156

Case Description: A 6-month-old sexually intact male Clumber Spaniel was evaluated because of small stature, recurrent dermatitis of the head, and progressive pigmentary hepatopathy.

Clinical Findings: Clinicopathologic findings included nonanemic hypochromic microcytosis, hypocholesterolemia, persistently high serum liver enzyme activities, and anicteric hyperbilirubinemia. Histologic examination of liver biopsy specimens collected when the dog was 6 months and 2 years of age revealed expansion and bridging of portal tracts, occasional centrilobular parenchymal collapse, scattered lymphoplasmacytic infiltrates, and dark red to brown pigment within large aggregates of macrophages, engorged bile canaliculi, and hepatocytes. Read More

J Photochem Photobiol B 2020 Dec 10;213:112054. Epub 2020 Oct 10.

Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark. Electronic address:

Erythropoietic protoporphyria (EPP) is characterised by accumulation of protoporphyrin IX (PpIX) in erythrocytes. Upon illumination PpIX is released to the skin. Activation of the photoactive substance PpIX causes painful skin symptoms. Read More

Eur J Dermatol 2020 Oct;30(5):532-540

Divisione di Medicina Interna, Centro di riferimento regionale per la diagnosi e la cura delle Porfirie, Policlinico di Modena, Dipartimento di Scienze Medico-Chirurgiche Materno-Infantili e dell'Adulto, Università di Modena e Reggio Emilia.

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.

Objective: To provide epidemiological data of EPP in Italy.

Materials & Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). Read More

Actas Dermosifiliogr 2021 Feb 28;112(2):186-188. Epub 2020 Sep 28.

Centro de Investigación de las Porfirias en Colombia (PorfiCol), Universidad de Antioquia, Medellín, Colombia. Electronic address:

Plast Reconstr Surg Glob Open 2020 Aug 17;8(8):e3066. Epub 2020 Aug 17.

Department of Plastic and Reconstructive Surgery, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

Mol Cell Proteomics 2020 12 10;19(12):1968-1986. Epub 2020 Sep 10.

Departments of Cellular & Molecular Pharmacology, University of California San Francisco, San Francisco, California, USA; Pharmaceutical Chemistry, University of California San Francisco, San Francisco, California, USA; Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA; The Liver Center, University of California San Francisco, San Francisco, California, USA. Electronic address:

Mallory-Denk-bodies (MDBs) are hepatic protein aggregates associated with inflammation both clinically and in MDB-inducing models. Similar protein aggregation in neurodegenerative diseases also triggers inflammation and NF-κB activation. However, the precise mechanism that links protein aggregation to NF-κB-activation and inflammatory response remains unclear. Read More

Genet Med 2021 Jan 2;23(1):140-148. Epub 2020 Sep 2.

Deparment of Medicine, Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA, USA.

Purpose: Erythropoietic protoporphyria (EPP), characterized by painful cutaneous photosensitivity, results from pathogenic variants in ferrochelatase (FECH). For 96% of patients, EPP results from coinheriting a rare pathogenic variant in trans of a common hypomorphic variant c.315-48T>C (minor allele frequency 0. Read More

Orphanet J Rare Dis 2020 08 18;15(1):213. Epub 2020 Aug 18.

Department for Endocrinology, Diabetology, Porphyria, Stadtspital Waid und Triemli, Zurich, Switzerland.

Background: Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectively increasing the time EPP patients can spend in direct sunlight without developing symptoms and reducing the number and severity of phototoxic reactions.

Objectives: We report our data on real-world effectiveness of afamelanotide treatment in EPP and its phototoxic burn protection factor (PBPF). Read More

Photodiagnosis Photodyn Ther 2020 Dec 24;32:101928. Epub 2020 Jul 24.

Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Denmark.

Background: Erythropoietic protoporphyria (EPP) is an inherited disorder leading to an increased concentration of the photoactive protoporphyrin IX (PpIX) in erythrocytes. Upon photoactivation in the dermal blood vessels and release to the skin, it causes painful skin symptoms when illuminated, depending on PpIX concentration. The present study aimed to investigate if erythrocyte PpIX concentration changes with age in patients with EPP. Read More

J Obstet Gynaecol 2020 Jul 27:1-2. Epub 2020 Jul 27.

Directorate of Women's Services, Cumberland Infirmary, Carlisle, UK.

Neth J Med 2020 07;78(4):149-160

Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands.

Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients. Read More

J Dtsch Dermatol Ges 2020 Oct 18;18(10):1079-1083. Epub 2020 Jun 18.

Department of Dermatology and Allergology, Biederstein, School of Medicine, Technical University, Munich, Germany.

Increased photosensitivity is a common cutaneous adverse effect associated with the BRAF inhibitor vemurafenib. Clinically, it presents as an immediate sensation of heat and edematous erythema during sun exposure, as well as a sunburn reaction in terms of a late reaction. Phototesting has shown that the UVA range (320 nm to 400 nm), triggers both the immediate and the late reaction. Read More

Nat Commun 2020 06 4;11(1):2813. Epub 2020 Jun 4.

Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7DQ, UK.

5'-aminolevulinate synthase (ALAS) catalyzes the first step in heme biosynthesis, generating 5'-aminolevulinate from glycine and succinyl-CoA. Inherited frameshift indel mutations of human erythroid-specific isozyme ALAS2, within a C-terminal (Ct) extension of its catalytic core that is only present in higher eukaryotes, lead to gain-of-function X-linked protoporphyria (XLP). Here, we report the human ALAS2 crystal structure, revealing that its Ct-extension folds onto the catalytic core, sits atop the active site, and precludes binding of substrate succinyl-CoA. Read More

Ned Tijdschr Tandheelkd 2020 Apr;127(4):237-243

The medicament afamelanotide is an analogue of endogenous ?-melanocyte-stimulating hormone. It promotes cutaneous pigmentation, providing protection from sunlight. In dermatology, afamelanotide seems to establish therapeutic results for polymorphic light eruption, solar urticaria, erythropoietic protoporphyria, Hailey-Hailey disease, vitiligo and acne vulgaris. Read More

Nucleic Acids Res 2020 05;48(9):4658-4671

Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zurich, Switzerland.

Erythropoietic protoporphyria (EPP) is a rare genetic disease in which patients experience acute phototoxic reactions after sunlight exposure. It is caused by a deficiency in ferrochelatase (FECH) in the heme biosynthesis pathway. Most patients exhibit a loss-of-function mutation in trans to an allele bearing a SNP that favors aberrant splicing of transcripts. Read More